Description:
HUNTINGTON DISEASE; HD
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Repository
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No Data
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| Subcollection |
Venezuelan Huntington Disease
Heritable Diseases
GeT-RM Samples |
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License Required
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No Data
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| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| De Luca A, Morella A, Consoli F, Fanelli S, Thibert JR, Statt S, Latham GJ, Squitieri F, A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene ( International journal of molecular sciences22: 2021 |
| PubMed ID: 33567536 |
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| Zhao M, Cheah FSH, Tan ASC, Lian M, Phang GP, Agarwal A, Chong SS, Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping Scientific reports9:16481 2019 |
| PubMed ID: 31712634 |
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| Goula AV, Stys A, Chan JP, Trottier Y, Festenstein R, Merienne K, Transcription elongation and tissue-specific somatic CAG instability PLoS genetics8:e1003051 2012 |
| PubMed ID: 23209427 |
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| Jama M, Millson A, Miller CE, Lyon E, Triplet repeat primed PCR simplifies testing for huntington disease The Journal of molecular diagnostics : JMD15:255-62 2012 |
| PubMed ID: 23414820 |
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| Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS, Development of genomic reference materials for Huntington disease genetic testing Genetics in medicine : official journal of the American College of Medical Genetics9:719-23 2007 |
| PubMed ID: 18073586 |
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| Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayan J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B; U.S.-Venezuela Collaborative Research Project, Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A101(10):3498-503 2004 |
| PubMed ID: 14993615 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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